Version 5.4
| Homo sapiens Gene: ADAMTSL2 | |||||||||||||||||||
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| Summary | |||||||||||||||||||
| InnateDB Gene | IDBG-91475.6 | ||||||||||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
| Gene Symbol | ADAMTSL2 | ||||||||||||||||||
| Gene Name | ADAMTS-like 2 | ||||||||||||||||||
| Synonyms | GPHYSD1 | ||||||||||||||||||
| Species | Homo sapiens | ||||||||||||||||||
| Ensembl Gene | ENSG00000197859 | ||||||||||||||||||
| Encoded Proteins |
ADAMTS-like 2
ADAMTS-like 2
ADAMTS-like 2
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| Protein Structure |
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| Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||
| Entrez Gene | |||||||||||||||||||
| Summary |
This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) and ADAMTS-like protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene lacks the protease domain, and is therefore of a member of the the ADAMTS-like protein subfamily. It is a secreted glycoprotein that binds the cell surface and extracellular matrix; it also interacts with latent transforming growth factor beta binding protein 1. Mutations in this gene have been associated with geleophysic dysplasia. [provided by RefSeq, Feb 2009] |
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| Gene Information | |||||||||||||||||||
| Type | Protein coding | ||||||||||||||||||
| Genomic Location | Chromosome 9:133532164-133575519 | ||||||||||||||||||
| Strand | Forward strand | ||||||||||||||||||
| Band | q34.2 | ||||||||||||||||||
| Transcripts |
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| Interactions | |||||||||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
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| Gene Ontology | |||||||||||||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Orthologs | |||||||||||||||||||
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Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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| Pathways | |||||||||||||||||||
| NETPATH | |||||||||||||||||||
| REACTOME |
Post-translational protein modification pathway
O-linked glycosylation pathway
Metabolism of proteins pathway
O-glycosylation of TSR domain-containing proteins pathway
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| KEGG | |||||||||||||||||||
| INOH | |||||||||||||||||||
| PID NCI | |||||||||||||||||||
| Cross-References | |||||||||||||||||||
| SwissProt | Q86TH1 | ||||||||||||||||||
| TrEMBL | A8MZ67 B1B0D4 | ||||||||||||||||||
| UniProt Splice Variant | |||||||||||||||||||
| Entrez Gene | 9719 | ||||||||||||||||||
| UniGene | Hs.522543 Hs.632697 | ||||||||||||||||||
| RefSeq | NM_001145320 NM_014694 XM_005272237 XM_005272238 XM_005272239 XM_006717336 XM_006717337 | ||||||||||||||||||
| HUGO | HGNC:14631 | ||||||||||||||||||
| OMIM | 612277 | ||||||||||||||||||
| CCDS | CCDS6976 | ||||||||||||||||||
| HPRD | |||||||||||||||||||
| IMGT | |||||||||||||||||||
| EMBL | AB011177 BC050544 BX324209 BX629352 BX649571 | ||||||||||||||||||
| GenPept | AAH50544 BAA25531 CAI17317 CAI18773 CAI23592 | ||||||||||||||||||
| RNA Seq Atlas | 9719 | ||||||||||||||||||